D Otaegui

Summary

Country: Spain

Publications

  1. ncbi request reprint Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene
    A Saenz
    Experimental Unit, Hospital Nuestra Senora de Aranzazu, San Sebastian, Basque Country, Spain
    Arch Neurol 56:1004-9. 1999
  2. ncbi request reprint Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population
    L Blazquez
    Experimental Unit, Donostia Hospital, San Sebastian, Spain
    Neurobiol Aging 28:1941-3. 2007
  3. ncbi request reprint Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease
    L Blazquez
    Experimental Unit, Donostia Hospital, San Sebastian, Spain
    Neurosci Lett 406:235-9. 2006
  4. ncbi request reprint CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population
    D Otaegui
    Unidad Experimental, Hospital Donostia, San Sebastian, Spain
    Mult Scler 12:511-4. 2006
  5. ncbi request reprint LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene
    A Saenz
    Unidad Experimental, Hospital Donostia, San Sebastian, Basque Country, Spain
    Brain 128:732-42. 2005
  6. ncbi request reprint Mitochondrial polymporphisms in Parkinson's Disease
    D Otaegui
    Experimental Unit, Hospital Donostia, Spain
    Neurosci Lett 370:171-4. 2004
  7. ncbi request reprint Mitochondrial haplogroups in Basque multiple sclerosis patients
    D Otaegui
    Experimental Unit, Hospital Donostia, San Sebastian, Spain
    Mult Scler 10:532-5. 2004
  8. doi request reprint Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis
    L Blazquez
    Experimental Unit, Hospital Donostia, San Sebastian, Spain
    Neurogenetics 9:173-82. 2008
  9. doi request reprint Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness
    D Otaegui
    Unidad Experimental, Hospital Donostia, San Sebastian, Spain
    Audiol Neurootol 13:320-7. 2008
  10. doi request reprint Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients
    D Otaegui
    Unidad Experimental, Hospital Donosita, San Sebastian, Spain
    Mult Scler 15:124-8. 2009

Collaborators

Detail Information

Publications17

  1. ncbi request reprint Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene
    A Saenz
    Experimental Unit, Hospital Nuestra Senora de Aranzazu, San Sebastian, Basque Country, Spain
    Arch Neurol 56:1004-9. 1999
    ....
  2. ncbi request reprint Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population
    L Blazquez
    Experimental Unit, Donostia Hospital, San Sebastian, Spain
    Neurobiol Aging 28:1941-3. 2007
    ..9%) than in AD patients (18%), suggesting a protective role of this allele on AD either due to the presence of the mutation itself or through the effect of other related genes in the ancestral haplotype in which it is included...
  3. ncbi request reprint Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease
    L Blazquez
    Experimental Unit, Donostia Hospital, San Sebastian, Spain
    Neurosci Lett 406:235-9. 2006
    ..We conclude that the APOE epsilon4 allele may be associated with the risk of developing PD in isolated cases and that it is linked to the presence of cognitive decline in familial PD in our sample...
  4. ncbi request reprint CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population
    D Otaegui
    Unidad Experimental, Hospital Donostia, San Sebastian, Spain
    Mult Scler 12:511-4. 2006
    ..Our results confirm the association between the V/V genotype at aa 57 of this gene and MS and highlight the importance of taking into account the origin of the subjects to avoid a population bias...
  5. ncbi request reprint LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene
    A Saenz
    Unidad Experimental, Hospital Donostia, San Sebastian, Basque Country, Spain
    Brain 128:732-42. 2005
    ..8%). However, if one of the analyses is lacking, the probability varies from 78.3 to 73.7% depending on the information available. When both tests are negative, the probability that the sample comes from a patient with LGMD2A was 12.2%...
  6. ncbi request reprint Mitochondrial polymporphisms in Parkinson's Disease
    D Otaegui
    Experimental Unit, Hospital Donostia, Spain
    Neurosci Lett 370:171-4. 2004
    ..Our analysis confirm the association between A4336G and PD. Our results with A10398G polymorphism highlight the importance of performing the association studies in ethnically homogeneous populations...
  7. ncbi request reprint Mitochondrial haplogroups in Basque multiple sclerosis patients
    D Otaegui
    Experimental Unit, Hospital Donostia, San Sebastian, Spain
    Mult Scler 10:532-5. 2004
    ..By contrast, a decrease could be seen in the frequency of the JT haplogroup in the ON group and in the MS-Basque group. That trend could be a protective effect, which needs to be verified in further investigations...
  8. doi request reprint Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis
    L Blazquez
    Experimental Unit, Hospital Donostia, San Sebastian, Spain
    Neurogenetics 9:173-82. 2008
    ..However, the lack of exon 15 in the CAPN3 isoforms present in blood, and the presence of mRNA degradation make it necessary to combine mRNA and DNA analyses in some specific cases...
  9. doi request reprint Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness
    D Otaegui
    Unidad Experimental, Hospital Donostia, San Sebastian, Spain
    Audiol Neurootol 13:320-7. 2008
    ..None of the mentioned modifying factors were related with the phenotype presentation of A1555G mutation. However, TRMU G28T single nucleotide polymorphism is present in 1 of the studied families...
  10. doi request reprint Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients
    D Otaegui
    Unidad Experimental, Hospital Donosita, San Sebastian, Spain
    Mult Scler 15:124-8. 2009
    ..This relationship is not clear because another report failed to found such association...
  11. ncbi request reprint UCP2 and mitochondrial haplogroups as a multiple sclerosis risk factor
    D Otaegui
    Unidad Experimental, Hospital Donostia, Spain
    Mult Scler 13:454-8. 2007
    ..Our results confirm the link between UCP2 SNP and MS, and show a slight relation between this SNP and mitochondrial haplogroups...
  12. doi request reprint Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect
    A Sistiaga
    Experimental Unit, Donostia Hospital, Spain, CIBER Neurodegenerative Diseases CIBERNED, Spain
    Genes Brain Behav 8:53-9. 2009
    ....
  13. ncbi request reprint Influence of CCR5-Delta32 genotype in Spanish population with multiple sclerosis
    D Otaegui
    Unidad Experimental, Hospital Donostia, San Sebastian, Spain
    Neurogenetics 8:201-5. 2007
    ..Relevant values were a P value of 0.008 and an odds ratio of 0.168 (95% confidence interval, 0.038 to 0.737)...
  14. doi request reprint Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1
    A Sistiaga
    Experimental Unit, Hospital Donostia, San Sebastian, Spain
    Psychol Med 40:487-95. 2010
    ..The aim of this study was to define the cognitive and personality patterns in adult DM1 patients, and to analyse the relationship between these clinical patterns and their association with the underlying molecular defect...
  15. doi request reprint Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene
    A Alzualde
    Unidad Neurociencias, Instituto de Investigación Biodonostia, San Sebastián, Spain
    Am J Med Genet B Neuropsychiatr Genet 153:1283-91. 2010
    ..In light of this case, genetic counseling for inherited and sporadic forms of transmissible encephalopathies should take into account this possibility for genetic screening procedures...
  16. doi request reprint Minimizing creatine kinase variability in rats for neuromuscular research purposes
    M Goicoechea
    Unidad Experimental, Laboratorio Unificado, Hospital Donostia, San Sebastian, Spain
    Lab Anim 42:19-25. 2008
    ....
  17. ncbi request reprint Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA
    M Mancuso
    Department of Neurology, P and S Building 5 431, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Neurology 59:1197-202. 2002
    ..Mutations in TK2 have been associated with the myopathic form of MDS, and mutations in dGK with the hepatoencephalopathic form...